Archives for April, 2009

Mark Henderson has a great piece in the Times exploring the impact of personal genomics on the practice of medicine. The basic theme should be familiar to anyone who has been following the emergence of the personal genomics industry: doctors are currently almost completely unprepared for the onslaught of genetic information they are about to…

This BBC video is worth checking out – it’s a nice visual display of the processes used by genome sequencing provider Complete Genomics to smash apart and resequence a human genome. I can’t help but wonder if Complete built the blue-lit, monitor-lined hallway (screen shot below) purely for this video; it makes for great cinematics.…

Razib points me to a great plain-language article reviewing our current scientific understanding of human genetic variation. The major focus is on copy-number variants (CNVs) – genetic variants involving the insertion or deletion of large chunks of DNA, sometimes spanning over a million bases. These large-scale variants lurked essentially unknown within the human genome until…

Razib has crunched the numbers from the General Social Survey (a massive longitudinal study of societal trends) to explore the variables associated with response to this question: Some people say that genetic testing may cause trouble. Others think it is a wonderful medical advance. Based on what you know, do you think genetic testing will…

GenomeWeb News reports that genome sequencing company Complete Genomics is cutting costs in the lead-up to the commercial launch of its whole-genome sequencing service in June: In order to save its remaining cash, the company recently implemented “a variety of cost-saving measures,” including “some reductions” in the salaries of its employees and a trimming of…

There are a couple of things I didn’t explain very well in my previous post about the strange case of the 13-year-old girl suing a sperm bank using product liability law, on the grounds that the sperm used to conceive her carried a genetic defect resulting in her mental retardation. First and foremost, what’s with…

New Scientist reports that a 13-year-old girl with Fragile X Syndrome – a severe genetic disorder – is suing the sperm bank that provided the sperm that led to her conception. Curiously, the legal issue hinges on “a product liability law more commonly associated with manufacturing defects, such as faulty car brakes”: Donovan does not…

Attila Csordas has a post up at Partial Immortalization explaining how to use the application MitoWheel (which Csordas helped develop) to visualise data from the new Haplogroup Tree Mutation Mapper from 23andMe. This might be a fun way for genetic genealogy afficianados to spend a few minutes getting to know their genomes better. This reminded…

Jeffrey Perkel at Biotechnically Speaking has a great overview of a recent paper in Nature Methods (see also coverage at GenomeWeb). The study in question used second-generation sequencing (with the ABI SOLiD system) to peer inside a single cell isolated from a mouse embryo. By sequencing the messenger RNA (mRNA) produced by the cell’s genome…

OK, so this GenomeWeb Daily News article is approximately four centuries old in internet time (i.e. around a week), but it’s worth going back and reading. I’ve previously argued at length that although personal genomics currently offers little in the way of useful, predictive health information, that lack of information in itself represents an important…